ABSTRACT
BACKGROUND: Children with Autism Spectrum Disorders (ASD) frequently receive poorer health care then the general population. Frequently the speech-language pathologist is the only health professional that follows the child's everyday life and therefore is the only resource for guidance regarding basic health habits. Poor oral health may result in severe discomfort and other health problems that can be prevented by simple routine habits and adequate professional follow-up. The aim of the present study was to gather information about oral hygiene and dental care habits of children with ASD and their families. The hypothesis was that these children have poorer oral care habits than their families. MATERIAL AND METHODS: Participants were parents of 120 children with autism, aged 4 to 12 years in two different cities of the state of Sao Paulo. They answered to a simple questionnaire about oral hygiene and health care habits. RESULTS: Indicated that there is a significant difference (p< 0.001) between the children and their families regarding basic oral hygiene habits, such as brushing and flossing, as well as routine visits to the dentist. CONCLUSIONS: This information clearly indicates the need for education programs aiming to encourage the inclusion children with ASD in the basic habits of oral care carried-out by the families. Key words:Autism disorder, oral hygiene habits, oral health.
ABSTRACT
Polymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27-q28. Two-point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two-point linkage analysis yield a Zmax = 2.06 at theta = 0.00 for markers DXS1205 and DXS1227. Multipoint lod-scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2-Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported.
Subject(s)
Chromosomes, Human, X/genetics , Malformations of Cortical Development/genetics , Adult , Cerebral Cortex/abnormalities , Child , Chromosome Mapping , Female , Genotype , Haplotypes , Humans , Lod Score , Magnetic Resonance Imaging , Male , Malformations of Cortical Development/pathology , Malformations of Cortical Development/psychology , Microsatellite Repeats , PedigreeABSTRACT
Perisylvian syndrome (PS) refers to a variety of clinical manifestations associated with lesions in the perisylvian or opercular region. Acquired lesions such as cerebrovascular diseases or virus encephalitis and congenital lesions such as polymicrogyria (PMG) may be implied as etiological factors. The onset of the PS may occur in early childhood. The aim of this study was to report one family with PS in order to draw attention to this rarely diagnosed entity. Our family has five affected patients, three children and two male adults. All of them had developmental language disorder. Epilepsy, motor deficit and pseudobulbar signs (such as drooling) were detected in one child who had diffuse PMG along the Sylvian fissure. Subtle clinical manifestations correlated with either subtle MRI findings or normal MRI. Most reported families provide evidence suggestive of X-linked transmission. However, the most likely mode of inheritance in our family is autosomal dominant, since a male to male transmission was documented.
Subject(s)
Cerebral Cortex/abnormalities , Nervous System Malformations/genetics , Speech Disorders/genetics , Adult , Brain Diseases/diagnosis , Brain Diseases/genetics , Brazil , Child , Epilepsy, Rolandic/diagnosis , Epilepsy, Rolandic/genetics , Female , Humans , Magnetic Resonance Imaging , Male , Medulla Oblongata , Mouth Diseases/diagnosis , Mouth Diseases/genetics , Movement Disorders/diagnosis , Movement Disorders/genetics , Nervous System Malformations/diagnosis , Pedigree , Speech Disorders/diagnosis , SyndromeABSTRACT
Síndrome peri-sylviana (SP) refere-se a diversas manifestações clínicas que podem acompanhar lesões que comprometem a região peri-sylviana ou opercular, podendo ser adquirida, como em acidentes vasculares cerebrais ou encefalites virais, ou ser congênita. A SP congênita pode se manifestar com grande variação clínica e em idades precoces. Com o advento da ressonância magnética (RM) foi possível observar a presença de polimicrogiria (PMG) na região da fissura de Sylvius em diversos pacientes com quadro clínico de SP. O objetivo do presente estudo é analisar e divulgar essa entidade raramente diagnosticada por meio da descrição de uma família. A família em questão compõe-se de cinco indivíduos acometidos, sendo o distúrbio de linguagem a manifestação mais prevalente, ou seja, presente em todos eles. Epilepsia, déficit motor e sinais pseudobulbares (como sialorréia) foram evidenciados no paciente que mostrou maior alteração à RM (PMG difusa). A paciente com PMG parietal posterior e os outros três com RM normais tiveram manifestações clínicas mais sutis. Apesar da maioria das famílias descritas até o momento apresentar transmissão ligada ao cromossomo X, a nossa família sugere transmissão autossômica dominante, já que dois meninos afetados são filhos de homens também acometidos. Os nossos dados reforçam a idéia de que a SP apresenta heterogeneidade genética.
Subject(s)
Adult , Child , Female , Humans , Male , Cerebral Cortex/abnormalities , Nervous System Malformations/genetics , Speech Disorders/genetics , Brazil , Brain Diseases/diagnosis , Brain Diseases/genetics , Epilepsy, Rolandic/diagnosis , Epilepsy, Rolandic/genetics , Magnetic Resonance Imaging , Medulla Oblongata , Mouth Diseases/diagnosis , Mouth Diseases/genetics , Movement Disorders/diagnosis , Movement Disorders/genetics , Nervous System Malformations/diagnosis , Pedigree , Syndrome , Speech Disorders/diagnosisABSTRACT
Alterações específicas do desenvolvimento da linguagem (AEDL) devem ser identificadas precocemente, pois tais alterações podem interferir nos aspectos sociais e escolares da criança. O objetivo dessa pesquisa foi verificar o desempenho de crianças com diagnóstico de AEDL, em comparação com o de crianças normais, por meio da Escala de Desenvolvimento Comportamental de Gesell e Amatruda (EDCGA). Foram selecionadas 25 crianças de 3 a 6 anos com o diagnóstico de AEDL (grupo estudado - GE) e 50 crianças normais da mesma faixa etária (grupo controle - GC). As crianças do GC apresentaram desempenho satisfatório e melhor que as crianças do GE, em todos os campos da escala. O valor da mediana do GE foi limítrofe nos comportamentos adaptativo e social-pessoal, já no de linguagem foi discrepantemente rebaixado. Concluímos que as alterações de linguagem interferiram na avaliação dos outros campos do desenvolvimento (adaptativo e pessoal-social). Apesar da interferência, a escala pode ser instrumento útil no diagnóstico de AEDL.
Subject(s)
Humans , Child, Preschool , Child , Child Development/physiology , Language Development Disorders/diagnosis , Language Tests/standards , Case-Control Studies , Child Behavior , Language Development Disorders/psychology , Motor Skills Disorders/diagnosis , Motor Skills/physiology , Statistics, NonparametricABSTRACT
Specific language impairment (SLI) should have an early diagnosis, since it can interfere with social and school adaptation of the child. The aim of this study was to verify the performance of children with SLI in comparison with normal children using the Behavior Developmental Scale of Gesell and Amatruda. Twenty-five SLI children, 3 to 6 years of age, were evaluated. This group was compared to 50 normal children of the same age. Children of control group showed better performance in all aspects of the scale. The medium value of the studied group was borderline in adaptative and social aspects, and was slightly below the medium in the language aspect. We conclude that language disorder may impair the assessment of other areas of development. Nevertheless, this scale may be useful in the evaluation of children with SLI.
